Mutation details:

Protein level identifier (NP_001035):

p.Ala314Val

cDNA level identifier (NM_001044):

c.941C>T

Gene level identifier:

g.29243C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

5:1416303

Gene name:

SLC6A3

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 homozygous (3 in total).